一种特定的HLA - DPβ等位基因与少关节型幼年类风湿性关节炎相关，但与成人类风湿性关节炎无关。
A specific HLA-DP beta allele is associated with pauciarticular juvenile rheumatoid arthritis but not adult rheumatoid arthritis.
作者信息
Begovich A B, Bugawan T L, Nepom B S, Klitz W, Nepom G T, Erlich H A
机构信息
Department of Human Genetics, Cetus Corporation, Emeryville, CA 94608.
出版信息
Proc Natl Acad Sci U S A. 1989 Dec;86(23):9489-93. doi: 10.1073/pnas.86.23.9489.
Abstract
Nonradioactive sequence-specific oligonucleotide probes specific for the HLA-DP beta locus have been used in a simple dot-blot format to type samples amplified by the polymerase chain reaction from 44 patients with pauciarticular juvenile rheumatoid arthritis, 32 patients with adult rheumatoid arthritis, and 50 random controls. The sequences of four new DP beta alleles derived from these patients and controls are reported, bringing the total number of alleles identified thus far to 19. The DPB2.1 allele is significantly increased in juvenile rheumatoid arthritis patients over controls; this allele is not increased in patients with adult rheumatoid arthritis. The association of juvenile rheumatoid arthritis with the DPB2.1 allele is independent of linkage with previously defined HLA-D region markers of disease. Analysis of the DPB2.1 sequence shows that it differs from the nonsusceptible DPB4.2 allele by only 1 amino acid at position 69 in the beta 1 domain.
摘要
针对HLA - DPβ基因座的非放射性序列特异性寡核苷酸探针已用于一种简单的点杂交形式，以对通过聚合酶链反应扩增的样本进行分型，这些样本来自44例少关节型幼年类风湿关节炎患者、32例成年类风湿关节炎患者和50名随机对照者。报告了从这些患者和对照中获得的四个新的DPβ等位基因序列，使迄今鉴定出的等位基因总数达到19个。与对照相比，DPB2.1等位基因在幼年类风湿关节炎患者中显著增加；在成年类风湿关节炎患者中该等位基因未增加。幼年类风湿关节炎与DPB2.1等位基因的关联独立于与先前定义的疾病HLA - D区域标记的连锁关系。对DPB2.1序列的分析表明，它与非易感性DPB4.2等位基因仅在β1结构域的第69位氨基酸处有1个氨基酸的差异。
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